AZU1

azurocidin 1, the group of Granule associated serine proteases of immune defence

Basic information

Region (hg38): 19:825097-832018

Links

ENSG00000172232 ∙ NCBI:566 ∙ OMIM:162815 ∙ HGNC:913 ∙ Uniprot:P20160 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AZU1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AZU1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			25			25
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	0	1

Variants in AZU1

This is a list of pathogenic ClinVar variants found in the AZU1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-827896-C-T		not specified	Uncertain significance (Apr 26, 2023)
19-828273-G-T		not specified	Uncertain significance (Jan 23, 2024)
19-828287-C-T		not specified	Uncertain significance (Nov 13, 2023)
19-828328-G-A		not specified	Uncertain significance (Feb 23, 2023)
19-828334-G-A		not specified	Uncertain significance (Jan 18, 2023)
19-828335-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-828347-C-G		not specified	Uncertain significance (Jan 16, 2024)
19-829611-C-T		not specified	Uncertain significance (Mar 08, 2024)
19-829619-G-T		not specified	Uncertain significance (Feb 05, 2024)
19-829626-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-829656-G-A		not specified	Uncertain significance (Aug 23, 2021)
19-829668-G-A		not specified	Uncertain significance (Jun 21, 2023)
19-829668-G-T		not specified	Uncertain significance (May 30, 2023)
19-830772-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-830781-C-A		not specified	Uncertain significance (Feb 28, 2024)
19-830819-C-T		not specified	Uncertain significance (Nov 03, 2022)
19-830829-G-A		not specified	Uncertain significance (Jul 16, 2021)
19-830831-C-T		not specified	Uncertain significance (Oct 13, 2021)
19-830860-C-G		not specified	Uncertain significance (May 30, 2024)
19-830861-G-A		not specified	Uncertain significance (Apr 28, 2023)
19-830900-G-A		not specified	Uncertain significance (Jun 12, 2023)
19-830921-C-T		not specified	Uncertain significance (Jan 26, 2023)
19-831722-G-A		not specified	Uncertain significance (Feb 27, 2024)
19-831773-T-G		not specified	Uncertain significance (Aug 13, 2021)
19-831783-C-T		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AZU1	protein_coding	protein_coding	ENST00000233997	5	6921

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000391	0.398	125571	0	124	125695	0.000493

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.132	175	180	0.972	0.0000127	1601
Missense in Polyphen		65	68.568	0.94797		637
Synonymous	-0.474	86	80.6	1.07	0.00000606	551
Loss of Function	0.246	7	7.74	0.905	3.32e-7	81

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000902	0.000891
Ashkenazi Jewish	0.00164	0.00159
East Asian	0.0000548	0.0000544
Finnish	0.000287	0.000231
European (Non-Finnish)	0.000547	0.000528
Middle Eastern	0.0000548	0.0000544
South Asian	0.000501	0.000490
Other	0.000501	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is a neutrophil granule-derived antibacterial and monocyte- and fibroblast-specific chemotactic glycoprotein. Binds heparin. The cytotoxic action is limited to many species of Gram- negative bacteria; this specificity may be explained by a strong affinity of the very basic N-terminal half for the negatively charged lipopolysaccharides that are unique to the Gram-negative bacterial outer envelope. It may play a role in mediating recruitment of monocytes in the second wave of inflammation. Has antibacterial activity against the Gram-negative bacterium P.aeruginosa, this activity is inhibited by LPS from P.aeruginosa. Acting alone, it does not have antimicrobial activity against the Gram-negative bacteria A.actinomycetemcomitans ATCC 29532, A.actinomycetemcomitans NCTC 9709, A.actinomycetemcomitans FDC-Y4, H.aphrophilus ATCC 13252, E.corrodens ATCC 23834, C.sputigena ATCC 33123, Capnocytophaga sp ATCC 33124, Capnocytophaga sp ATCC 27872 or E.coli ML-35. Has antibacterial activity against C.sputigena ATCC 33123 when acting synergistically with either elastase or cathepsin G. {ECO:0000269|PubMed:1399008, ECO:0000269|PubMed:1937776, ECO:0000269|PubMed:2312733}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.400

Intolerance Scores

• loftool: 0.258
• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: microglial cell activation;proteolysis;inflammatory response;protein kinase C-activating G protein-coupled receptor signaling pathway;glial cell migration;positive regulation of gene expression;positive regulation of peptidyl-threonine phosphorylation;antimicrobial humoral response;calcium-mediated signaling using intracellular calcium source;monocyte activation;positive regulation of tumor necrosis factor biosynthetic process;negative regulation of apoptotic process;regulation of vascular permeability;neutrophil degranulation;cellular extravasation;positive regulation of MHC class II biosynthetic process;positive regulation of cell adhesion;positive regulation of protein kinase activity;macrophage chemotaxis;positive regulation of interleukin-1 beta biosynthetic process;positive regulation of fractalkine biosynthetic process;positive regulation of phagocytosis;defense response to Gram-negative bacterium;induction of positive chemotaxis;defense response to virus;cell chemotaxis;protein kinase C signaling;neutrophil mediated killing of bacterium
• Cellular component: extracellular region;extracellular space;extrinsic component of membrane;azurophil granule membrane;azurophil granule lumen;azurophil granule;extracellular exosome
• Molecular function: serine-type endopeptidase activity;protein binding;heparin binding;peptidase activity;toxic substance binding;heparan sulfate proteoglycan binding